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Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Disease ID: disease_node_15663

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DbxrefMIM:271510, NCI:C92206, UMLS_CUI:C0920349
SubclassofDOID_0080027, DOID_0050737
Data SourceDOID
SynonymsSpondylar and nasal Alterations-Striated Metaphyses syndrome, sponastrime dysplasia
Doid Labelspondyloepimetaphyseal dysplasia, Sponastrime type
Doid DescriptionA spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_15663
Doid IdDOID_5684
LabelSpondyloepimetaphyseal Dysplasia, Sponastrime Type